ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Mendelics

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 456
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000492.4(CFTR):c.1210-11_1210-10insG rs551227135 0.00072
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu) rs75961395 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs) rs766187994 0.00006
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000492.4(CFTR):c.1766+1G>A rs121908748 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter) rs74767530 0.00004
NM_000492.4(CFTR):c.579+1G>T rs77188391 0.00004
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-1G>C rs372267274 0.00004
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu) rs367707903 0.00004
NM_000277.3(PAH):c.168+5G>C rs62507288 0.00003
NM_000372.5(TYR):c.1064C>T (p.Ala355Val) rs151206295 0.00003
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501 0.00003
NM_000492.4(CFTR):c.1680-886A>G rs397508266 0.00003
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247 0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter) rs773968778 0.00003
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) rs121908753 0.00002
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu) rs121909047 0.00002
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300 0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328 0.00002
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter) rs397508387 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204 0.00002
NM_005548.3(KARS1):c.1430G>A (p.Arg477His) rs778748895 0.00002
NM_006736.6(DNAJB2):c.352+1G>A rs756614404 0.00002
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs) rs765376986 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983 0.00001
NM_000271.5(NPC1):c.2972del (p.Gln991fs) rs1567948623 0.00001
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr) rs1046046139 0.00001
NM_000287.4(PEX6):c.510_511del (p.Asp172fs) rs61753211 0.00001
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) rs779997983 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1680-1G>A rs121908794 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.1766+3A>G rs397508298 0.00001
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter) rs121908760 0.00001
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter) rs121908810 0.00001
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs) rs1057517068 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3659del (p.Thr1220fs) rs121908811 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter) rs373909351 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_001160372.4(TRAPPC9):c.3279+1G>A rs1489634479 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter) rs782138777 0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_003846.3(PEX11B):c.1A>G (p.Met1Val) rs782262926 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_015665.6(AAAS):c.938T>C (p.Val313Ala) rs773601814 0.00001
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp) rs765235707 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_024649.5(BBS1):c.118del (p.Cys40fs) rs1490351829 0.00001
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081 0.00001
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys) rs767873726 0.00001
NM_152384.3(BBS5):c.209-1G>A rs1172161975 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.5278del (p.Asp1760fs) rs754374132 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NC_000007.14:g.117664688_117667108del
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) rs1233969418
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter) rs1596232266
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3163dup (p.Cys1055fs) rs2151187381
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3587del (p.Ser1196fs) rs367543018
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs) rs1595382501
NM_000180.4(GUCY2D):c.1957-2A>G rs945734402
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val) rs1424348888
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly) rs61750172
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000232.5(SGCB):c.243+2T>C rs1553940661
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) rs28940580
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs) rs1591287317
NM_000260.4(MYO7A):c.183del (p.Thr62fs) rs1446588093
NM_000260.4(MYO7A):c.2750del (p.Glu917fs) rs1591378140
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg) rs751769391
NM_000260.4(MYO7A):c.6439-1G>A rs1591514873
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu) rs1160114136
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu) rs1169032037
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.3662del (p.Phe1221fs) rs786200878
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs) rs1592947538
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.239dup (p.Thr81fs) rs1592978816
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000281.4(PCBD1):c.272del (p.Asn91fs) rs1589483932
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000302.4(PLOD1):c.1479dup (p.Met494fs) rs1569724692
NM_000320.3(QDPR):c.174del (p.Ser59fs) rs1577195951
NM_000320.3(QDPR):c.421del (p.Leu141fs) rs1577191558
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.724C>T (p.Leu242Phe) rs1457094087
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter) rs2126696915
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe) rs1307944675
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs) rs746418935
NM_000492.3(CFTR):c.2989_3139del151 rs1562914028
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.3(CFTR):c.54_164del111 rs1562882675
NM_000492.4(CFTR):c.-9_14del (p.Met1fs) rs397508136
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs) rs1562892359
NM_000492.4(CFTR):c.1115del (p.Gln372fs) rs1562892387
NM_000492.4(CFTR):c.1116+1G>A rs397508158
NM_000492.4(CFTR):c.1116+1G>T rs397508158
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter) rs1562892823
NM_000492.4(CFTR):c.1197del (p.Phe400fs) rs1562892895
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter) rs397508173
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1211_1392+1del rs1562894928
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs) rs797045161
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.4(CFTR):c.147_150del (p.Ser50fs) rs1562882755
NM_000492.4(CFTR):c.1486del (p.Trp496fs) rs1584798316
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter) rs397508223
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs) rs1562898471
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1586_1679+1del rs1562906265
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1656del (p.Gln552fs) rs397508253
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter) rs397508256
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His) rs121909006
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.4(CFTR):c.1766+3A>C rs397508298
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter) rs1562907873
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2052del (p.Lys684fs) rs121908746
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2089del (p.Arg697fs) rs397508341
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter) rs397508343
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter) rs397508350
NM_000492.4(CFTR):c.2215del (p.Val739fs) rs397508353
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter) rs145449046
NM_000492.4(CFTR):c.243del (p.Phe81fs) rs1562884046
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter) rs397508381
NM_000492.4(CFTR):c.2492_2619+1del rs1562908889
NM_000492.4(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2583del (p.Phe861fs) rs397508399
NM_000492.4(CFTR):c.262_263del (p.Leu88fs) rs121908769
NM_000492.4(CFTR):c.2658-2A>G rs1554390958
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) rs121909034
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter) rs121908788
NM_000492.4(CFTR):c.274-2A>C rs397508426
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.275_489+1del rs1562889180
NM_000492.4(CFTR):c.275_579+1del
NM_000492.4(CFTR):c.2812dup (p.Val938fs) rs1562911661
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs) rs1562911739
NM_000492.4(CFTR):c.2911_3367+2del
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.2T>G (p.Met1Arg) rs397508476
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs) rs397508477
NM_000492.4(CFTR):c.3011del (p.Ala1004fs) rs1562914082
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter) rs1562914107
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter) rs1562914200
NM_000492.4(CFTR):c.3141_3468+1del
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter) rs1562914641
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs) rs1562914838
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3367+2T>A rs397508544
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs) rs397508559
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3528del (p.Lys1177fs) rs78984783
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs) rs387906378
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs) rs1562919371
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val) rs75389940
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter) rs1562923164
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg) rs397508602
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter) rs76649725
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.4(CFTR):c.3873+1G>A rs143570767
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.4(CFTR):c.3966_4242+2del rs1562928854
NM_000492.4(CFTR):c.3999del (p.Lys1334fs) rs886042527
NM_000492.4(CFTR):c.3G>A (p.Met1Ile) rs397508657
NM_000492.4(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.4(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.4(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter) rs397508699
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.433del (p.Leu145fs) rs1562889382
NM_000492.4(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.4(CFTR):c.490-1G>T rs397508734
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.4(CFTR):c.4del (p.Gln2fs) rs1562876396
NM_000492.4(CFTR):c.51del (p.Phe17fs) rs1317756653
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.560del (p.Asn187fs) rs1562890223
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.580-1G>T rs121908793
NM_000492.4(CFTR):c.580-2A>C rs193922730
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.861_865del (p.Asn287fs) rs397508805
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter) rs1584787782
NM_000492.4(CFTR):c.866_870del (p.Arg289fs) rs1562891084
NM_000492.4(CFTR):c.869+1G>T rs1330431481
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.337del (p.Gln113fs) rs1553129638
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His) rs143353451
NM_001139.3(ALOX12B):c.435-2A>G rs1598181642
NM_001171.6(ABCC6):c.1609del (p.Val537fs) rs1596678798
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter) rs771628868
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter) rs756389027
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter) rs1434010689
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs) rs1572970628
NM_001384140.1(PCDH15):c.1441-1G>T rs2133801703
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter) rs1590691343
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer) rs1589950125
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.842dup (p.Leu281fs) rs864309669
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser) rs1414973726
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe) rs2139621988
NM_003322.6(TULP1):c.1388del (p.Asn463fs) rs1581736024
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu) rs868951923
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro) rs1271250198
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter) rs550254092
NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs) rs1572304438
NM_005687.5(FARSB):c.1408del (p.Leu470fs) rs2106209945
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly) rs2106230623
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter) rs747266069
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter) rs2144219508
NM_014028.4(OSTM1):c.486del (p.Phe162fs) rs1582396088
NM_014168.4(METTL5):c.591+2T>G rs1400976065
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter) rs1593121484
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs) rs773754134
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs) rs753012964
NM_014780.5(CUL7):c.652del (p.Arg218fs) rs1581962986
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs) rs2121081165
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr) rs1450008394
NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser) rs2141181367
NM_016194.4(GNB5):c.375+1G>T rs886041055
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter) rs1377102705
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter) rs1597752877
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs) rs1593326999
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys) rs397514683
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs) rs1589079163
NM_018972.4(GDAP1):c.694+1G>A rs1183978180
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
NM_020247.5(COQ8A):c.1358del (p.Leu453fs) rs1271428051
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs) rs1584934951
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.6577del (p.Val2193fs) rs1599445663
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs) rs2145359858
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del) rs759141702
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter) rs887346658
NM_024057.4(NUP37):c.153_156+3del rs770156086
NM_024649.5(BBS1):c.1243del (p.Val415fs) rs1590772920
NM_024685.4(BBS10):c.1315del (p.Gln439fs) rs1592491950
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter) rs1597012997
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs) rs1581135405
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs) rs1439933768
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr) rs1582024305
NM_138694.4(PKHD1):c.1693+2T>G rs1581999471
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_144672.4(OTOA):c.1320+2T>C rs1567381218
NM_153816.6(SNX14):c.1608+1G>T rs749656742
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_178172.6(GPIHBP1):c.182-1G>T rs2130672651
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_198428.3(BBS9):c.310del (p.Cys104fs) rs747388658
NM_198428.3(BBS9):c.702+1G>A rs2128325966
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) rs1571523319
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) rs745348555
NM_201253.3(CRB1):c.281_282del (p.Phe94fs) rs1571848166
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) rs62645747
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) rs1571557864
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) rs1571878277
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.11389+1G>A rs368770647
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.1829A>C (p.His610Pro) rs1571668556
NM_206933.4(USH2A):c.2534del (p.Leu845fs) rs1572088481
NM_206933.4(USH2A):c.2809+1G>A rs759433119
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
NM_206933.4(USH2A):c.4603dup (p.His1535fs) rs1572020896
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) rs762837293
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter) rs863224941
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770

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